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Aliases for BMS1 Gene

Aliases for BMS1 Gene

  • BMS1, Ribosome Biogenesis Factor 2 3 5
  • Ribosome Assembly Protein BMS1 Homolog 3 4
  • BMS1L 3 4
  • BMS1 Homolog, Ribosome Assembly Protein (Yeast) 2
  • BMS1-Like, Ribosome Assembly Protein (Yeast) 2
  • Ribosome Biogenesis Protein BMS1 Homolog 3
  • BMS1 Homolog, Ribosome Assembly Protein 3
  • BMS1-Like, Ribosome Assembly Protein 3
  • KIAA0187 4
  • ACC 3

External Ids for BMS1 Gene

Previous HGNC Symbols for BMS1 Gene

  • BMS1L

Previous GeneCards Identifiers for BMS1 Gene

  • GC10P042599
  • GC10P043277
  • GC10P039804

Summaries for BMS1 Gene

Entrez Gene Summary for BMS1 Gene

  • This gene likely encodes a ribosome assembly protein. A similar protein in yeast functions in 35S-rRNA processing, which includes a series of cleavage steps critical for formation of 40S ribosomes. Related pseudogenes exist on chromosomes 2, 9, 10, 15, 16, and 22.[provided by RefSeq, Mar 2009]

GeneCards Summary for BMS1 Gene

BMS1 (BMS1, Ribosome Biogenesis Factor) is a Protein Coding gene. Diseases associated with BMS1 include Aplasia Cutis Congenita, Nonsyndromic and Aplasia Cutis Congenita. Among its related pathways are rRNA processing in the nucleus and cytosol and Gene Expression. Gene Ontology (GO) annotations related to this gene include GTPase activity.

UniProtKB/Swiss-Prot for BMS1 Gene

  • May act as a molecular switch during maturation of the 40S ribosomal subunit in the nucleolus.

Additional gene information for BMS1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BMS1 Gene

Genomics for BMS1 Gene

GeneHancer (GH) Regulatory Elements for BMS1 Gene

Promoters and enhancers for BMS1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J042781 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 700.6 +0.3 255 2.2 ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 ZNF548 SP3 BMS1 GC10M042779 HNRNPF EIF3LP2 ENSG00000273008 ZNF32-AS2 ZNF32-AS1 ZNF37BP RSU1P1 CUBNP1
GH10J043392 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 62 +619.2 619183 18.3 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 HNRNPF RASGEF1A BMS1 EIF3LP2 ZNF32-AS2 HNRNPA3P1 ZNF37BP ZNF33B ZNF32-AS1 ZNF32
GH10J043416 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE dbSUPER 34.5 +637.0 637037 6.1 CLOCK MLX ZFP64 DMAP1 YY1 E2F8 ZNF143 SP3 NFYC PPARGC1A LOC105378272 GC10P043423 BMS1 ZNF32-AS2 EIF3LP2 ZNF33B ZNF239 ENSG00000259869 HNRNPF CSGALNACT2
GH10J043572 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 20.8 +792.3 792297 3.9 CLOCK ARNT SIN3A YY1 ZNF766 CBX5 ZNF213 E2F8 ZNF143 KLF13 ZNF239 ZNF32-AS2 BMS1 ZNF33B ZNF32-AS1 ZNF487 CAP1P2
GH10J043647 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 12.7 +865.9 865891 2.4 PKNOX1 ATF1 ZFP64 SIN3A ZNF48 YY1 ETS1 ZNF766 ZNF416 ZNF207 LOC105378274 ZNF32 ZNF32-AS2 BMS1 ENSG00000273008 ZNF32-AS3 GC10M043601
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BMS1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BMS1 gene promoter:
  • CUTL1
  • STAT1beta
  • STAT1alpha
  • STAT1
  • USF-1
  • USF-1:USF-2
  • USF1
  • USF2
  • HNF-1A
  • HNF-1

Genomic Locations for BMS1 Gene

Genomic Locations for BMS1 Gene
52,432 bases
Plus strand
52,432 bases
Plus strand

Genomic View for BMS1 Gene

Genes around BMS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BMS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BMS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BMS1 Gene

Proteins for BMS1 Gene

  • Protein details for BMS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Ribosome biogenesis protein BMS1 homolog
    Protein Accession:
    Secondary Accessions:
    • Q5QPT5
    • Q86XJ9

    Protein attributes for BMS1 Gene

    1282 amino acids
    Molecular mass:
    145807 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAA11504.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for BMS1 Gene

Post-translational modifications for BMS1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BMS1 Gene

No data available for DME Specific Peptides for BMS1 Gene

Domains & Families for BMS1 Gene

Gene Families for BMS1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for BMS1 Gene

Suggested Antigen Peptide Sequences for BMS1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the TRAFAC class translation factor GTPase superfamily. Bms1-like GTPase family. BMS1 subfamily.
  • Belongs to the TRAFAC class translation factor GTPase superfamily. Bms1-like GTPase family. BMS1 subfamily.
genes like me logo Genes that share domains with BMS1: view

Function for BMS1 Gene

Molecular function for BMS1 Gene

UniProtKB/Swiss-Prot Function:
May act as a molecular switch during maturation of the 40S ribosomal subunit in the nucleolus.

Phenotypes From GWAS Catalog for BMS1 Gene

Gene Ontology (GO) - Molecular Function for BMS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0003924 GTPase activity IBA --
GO:0005524 ATP binding IEA --
GO:0005525 GTP binding IBA --
GO:0034511 U3 snoRNA binding IBA --
genes like me logo Genes that share ontologies with BMS1: view
genes like me logo Genes that share phenotypes with BMS1: view

Human Phenotype Ontology for BMS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for BMS1 Gene

MGI Knock Outs for BMS1:
  • Bms1 Bms1<tm1b(EUCOMM)Hmgu>

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for BMS1 Gene

Localization for BMS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BMS1 Gene

Nucleus, nucleolus.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BMS1 gene
Compartment Confidence
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (4)
  • Nucleus (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BMS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus ISS --
GO:0030686 90S preribosome IBA --
genes like me logo Genes that share ontologies with BMS1: view

Pathways & Interactions for BMS1 Gene

genes like me logo Genes that share pathways with BMS1: view

Gene Ontology (GO) - Biological Process for BMS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000462 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA --
GO:0000479 endonucleolytic cleavage of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA --
GO:0006364 rRNA processing TAS --
GO:0042254 ribosome biogenesis IEA --
genes like me logo Genes that share ontologies with BMS1: view

No data available for SIGNOR curated interactions for BMS1 Gene

Drugs & Compounds for BMS1 Gene

No Compound Related Data Available

Transcripts for BMS1 Gene

mRNA/cDNA for BMS1 Gene

Unigene Clusters for BMS1 Gene

BMS1 homolog, ribosome assembly protein (yeast):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for BMS1 Gene

No ASD Table

Relevant External Links for BMS1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for BMS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BMS1 Gene

Protein differential expression in normal tissues from HIPED for BMS1 Gene

This gene is overexpressed in Plasma (18.8), Adrenal (13.6), and Peripheral blood mononuclear cells (13.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BMS1 Gene

Protein tissue co-expression partners for BMS1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of BMS1 Gene:


SOURCE GeneReport for Unigene cluster for BMS1 Gene:


Evidence on tissue expression from TISSUES for BMS1 Gene

  • Bone marrow(4.3)
  • Liver(4.3)
  • Skin(4.2)
  • Nervous system(3.7)
  • Muscle(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for BMS1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • skeleton
Head and neck:
  • head
  • scalp
  • skull
  • blood
  • blood vessel
  • hair
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with BMS1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for BMS1 Gene

Orthologs for BMS1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for BMS1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia BMS1 34 33
  • 99.45 (n)
(Canis familiaris)
Mammalia BMS1 34 33
  • 89.65 (n)
(Bos Taurus)
Mammalia BMS1 34 33
  • 88.69 (n)
(Rattus norvegicus)
Mammalia Bms1 33
  • 83.6 (n)
(Mus musculus)
Mammalia Bms1 16 34 33
  • 83.33 (n)
(Monodelphis domestica)
Mammalia BMS1 34
  • 77 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 76 (a)
-- 34
  • 63 (a)
(Gallus gallus)
Aves BMS1 34 33
  • 71.83 (n)
(Anolis carolinensis)
Reptilia -- 34
  • 87 (a)
-- 34
  • 70 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia bms1 33
  • 67.63 (n)
(Danio rerio)
Actinopterygii bms1l 34 33
  • 64.33 (n)
Dr.17421 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7464 33
fruit fly
(Drosophila melanogaster)
Insecta CG7728 34 33
  • 56.55 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005871 33
  • 54.14 (n)
(Caenorhabditis elegans)
Secernentea CELE_Y61A9LA.10 33
  • 55.36 (n)
Y61A9LA.10 34
  • 47 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BMS1 36 34 33
  • 54.43 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL113C 33
  • 53.56 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B02068g 33
  • 52.48 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G06720 33
  • 56.21 (n)
(Oryza sativa)
Liliopsida Os03g0333100 33
  • 56.73 (n)
Os.19112 33
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes bms1 33
  • 52.31 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU04348 33
  • 52.27 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1075 34
  • 45 (a)
Species where no ortholog for BMS1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for BMS1 Gene

Gene Tree for BMS1 (if available)
Gene Tree for BMS1 (if available)
Evolutionary constrained regions (ECRs) for BMS1: view image

Paralogs for BMS1 Gene

No data available for Paralogs for BMS1 Gene

Variants for BMS1 Gene

Sequence variations from dbSNP and Humsavar for BMS1 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs587777706 pathogenic, Aplasia cutis congenita, Aplasia cutis congenita, non-syndromic (ACC) [MIM:107600] 42,820,527(+) G/A coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs1000004809 -- 42,826,007(+) T/A genic_downstream_transcript_variant, intron_variant
rs1000019535 -- 42,803,473(+) A/G intron_variant
rs1000134116 -- 42,807,039(+) G/C intron_variant
rs1000241719 -- 42,800,948(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for BMS1 Gene

Variant ID Type Subtype PubMed ID
esv2759746 CNV loss 17122850
esv29464 CNV gain 19812545
esv32721 CNV loss 17666407
esv34929 CNV loss 17911159
esv3623028 CNV loss 21293372
esv3623029 CNV loss 21293372
nsv1042764 CNV gain 25217958
nsv1047838 CNV gain 25217958
nsv550672 CNV gain 21841781
nsv8627 CNV gain+loss 18304495
nsv947889 CNV duplication 23825009
nsv947891 CNV duplication 23825009
nsv948330 CNV duplication 23825009

Variation tolerance for BMS1 Gene

Residual Variation Intolerance Score: 93% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.73; 86.60% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BMS1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BMS1 Gene

Disorders for BMS1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for BMS1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
aplasia cutis congenita, nonsyndromic
  • acc
aplasia cutis congenita
  • aplasia cutis congenita nonsyndromic
- elite association - COSMIC cancer census association via MalaCards
Search BMS1 in MalaCards View complete list of genes associated with diseases


  • Aplasia cutis congenita, non-syndromic (ACC) [MIM:107600]: A disorder characterized by congenital absence of a portion of skin in a localized or widespread area of the body. The lesions are most commonly localized on the scalp, however aplasia cutis congenita can affect any part of the body. {ECO:0000269 PubMed:23785305}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for BMS1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with BMS1: view

No data available for Genatlas for BMS1 Gene

Publications for BMS1 Gene

  1. BMS1 is mutated in aplasia cutis congenita. (PMID: 23785305) Marneros AG (PLoS genetics 2013) 2 3 4 58
  2. Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. (PMID: 21685912) Höglinger GU … Schellenberg GD (Nature genetics 2011) 3 44 58
  3. Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease. (PMID: 19204726) Chapuis J … Lambert JC (Molecular psychiatry 2009) 3 44 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Human paralogs of KIAA0187 were created through independent pericentromeric-directed and chromosome-specific duplication mechanisms. (PMID: 11779832) Crosier M … Jackson MS (Genome research 2002) 2 3 58

Products for BMS1 Gene

Sources for BMS1 Gene

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